Canonical Allele Identifier: CA412193999

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893453A>C (hg19) ; chr22:g.50455024A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455024A>C , CM000684.2:g.50455024A>C	GRCh38
NC_000022.10:g.50893453A>C , CM000684.1:g.50893453A>C	GRCh37
NC_000022.9:g.49240319A>C	NCBI36
NG_041810.1:g.25048T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4595T>G	ENSP00000252027.8:p.Ile1532Ser
ENST00000418590.4:c.305T>G	ENSP00000401538.2:p.Ile102Ser
ENST00000470434.2:n.1076T>G
ENST00000684986.1:c.4676T>G	ENSP00000509117.1:p.Ile1559Ser
ENST00000685180.1:n.2488+5510T>G
ENST00000685390.1:n.2641T>G
ENST00000685411.1:n.423T>G
ENST00000685592.1:c.907T>G
ENST00000685809.1:c.4586T>G	ENSP00000508863.1:p.Ile1529Ser
ENST00000686029.1:c.751T>G
ENST00000686191.1:n.3873T>G
ENST00000686222.1:c.*4095T>G	ENSP00000508737.1:n.*4095T>G
ENST00000686321.1:c.769T>G
ENST00000686427.1:c.*1608T>G	ENSP00000510379.1:n.*1608T>G
ENST00000686758.1:n.2416T>G
ENST00000686801.1:c.4661T>G	ENSP00000509915.1:p.Ile1554Ser
ENST00000686826.1:n.992T>G
ENST00000687016.1:c.4574T>G	ENSP00000509074.1:p.Ile1525Ser
ENST00000687704.1:c.*2398T>G	ENSP00000510454.1:n.*2398T>G
ENST00000688066.1:c.4673T>G	ENSP00000510782.1:p.Ile1558Ser
ENST00000688124.1:c.*3591T>G	ENSP00000510645.1:n.*3591T>G
ENST00000688848.1:c.*4017T>G	ENSP00000509419.1:n.*4017T>G
ENST00000688985.1:c.1674T>G	ENSP00000510477.1:n.1674T>G
ENST00000689129.1:c.4598T>G	ENSP00000510414.1:p.Ile1533Ser
ENST00000689177.1:n.5945T>G
ENST00000689849.1:c.769T>G
ENST00000689981.1:c.4673T>G	ENSP00000509035.1:p.Ile1558Ser
ENST00000690369.1:n.4691T>G
ENST00000690590.1:n.1720T>G
ENST00000690990.1:c.4667T>G	ENSP00000510461.1:p.Ile1556Ser
ENST00000691233.1:c.4592T>G	ENSP00000509215.1:p.Ile1531Ser
ENST00000691306.1:c.771T>G
ENST00000691345.1:n.2302+1192T>G
ENST00000691792.1:c.4661T>G	ENSP00000509911.1:p.Ile1554Ser
ENST00000691959.1:n.5392T>G
ENST00000692844.1:n.1757T>G
ENST00000692946.1:c.769T>G
ENST00000693052.1:c.4691T>G	ENSP00000509558.1:p.Ile1564Ser
ENST00000693289.1:n.1832T>G
ENST00000693440.1:c.4670T>G	ENSP00000509462.1:p.Ile1557Ser
ENST00000693499.1:n.5598T>G
ENST00000693591.1:n.3410T>G
ENST00000380817.8:c.4673T>G MANE Select	ENSP00000370196.2:p.Ile1558Ser
ENST00000348911.10:c.4598T>G	ENSP00000252027.7:p.Ile1533Ser
ENST00000380817.7:c.4673T>G	ENSP00000370196.2:p.Ile1558Ser
ENST00000418590.3:c.273T>G
ENST00000470434.1:n.814T>G
NM_002972.3:c.4673T>G	NP_002963.2:p.Ile1558Ser
XM_005261931.1:c.4676T>G	XP_005261988.1:p.Ile1559Ser
XM_005261935.1:c.4595T>G	XP_005261992.1:p.Ile1532Ser
XM_011530707.1:c.4775T>G	XP_011529009.1:p.Ile1592Ser
XM_011530708.1:c.4727T>G	XP_011529010.1:p.Ile1576Ser
XM_011530709.1:c.4703T>G	XP_011529011.1:p.Ile1568Ser
XM_011530710.1:c.4700T>G	XP_011529012.1:p.Ile1567Ser
XM_011530711.1:c.4700T>G	XP_011529013.1:p.Ile1567Ser
XR_938344.1:n.4793T>G
NM_001365819.1:c.4598T>G	NP_001352748.1:p.Ile1533Ser
XM_005261935.2:c.4595T>G	XP_005261992.1:p.Ile1532Ser
XM_011530709.2:c.4703T>G	XP_011529011.1:p.Ile1568Ser
XM_011530710.2:c.4700T>G	XP_011529012.1:p.Ile1567Ser
XM_017028905.2:c.4625T>G	XP_016884394.1:p.Ile1542Ser
NM_002972.4:c.4673T>G MANE Select	NP_002963.2:p.Ile1558Ser